Administration MRDDRC - Mental Retardation and Developmental Disabilities Research Center MRXS4 - Mental Retardation, X-Linked, Syndromic 4 MR/CM - Mental Retardation and Congenital Malformations XLMR - X-Linked Mental Retardation MHMRSA - Mental Health [acronymsandslang.com]

Syndrome Symptoms & Phenotypes for Abidi X-Linked Mental Retardation Syndrome Human phenotypes related to Abidi X-Linked Mental Retardation Syndrome: 60 33 (show all 12) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 intellectual disability [malacards.org]

disability, Pai type 1 Family 85285 X-linked intellectual disability, Schimke type 4 Cases 85323 X-linked intellectual disability, Seemanova type 4 Cases 85286 X-linked intellectual disability, Shashi type 9 Cases 85324 X-linked intellectual disability [azkurs.org]

X-linked intellectual disability (Medical Condition) Symptoms, risk factors and treatments of X-linked intellectual disability (Medical Condition) X-linked intellectual disability refers to forms of intellectual disability ... [wikinow.co]

disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability, Najm type X-linked intellectual disability, Nascimento type X-linked intellectual disability, Pai type X-linked intellectual disability, [se-atlas.de]

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. Human Molecular Genetics, 14 (8), 1019-1027. [scholars.opb.msu.edu]

Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign familial infantile epilepsy Benign familial mesial temporal lobe epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile [se-atlas.de]

Syndrome ; Chudley-Lowry Syndrome (see also ATRX-Associated XLID) ; CK Syndrome ; Clark-Baraitser Syndrome ; Coffin-Lowry Syndrome ; Cornelia de Lange Syndrome, X-Linked ; Craniofacioskeletal ; Duchenne Muscular Dystrophy ; Dyskeratosis Congenita ; Epilepsy-Intellectual [amazon.de]

PMID: 27333055 Authors Moortgat S, Desir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I Title Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy [genome.jp]

stature 60 Very frequent (99-80%) 7 cleft palate 60 Occasional (29-5%) 8 protruding ear 60 Occasional (29-5%) 9 prominent nasal bridge 60 Occasional (29-5%) 10 non-midline cleft lip 60 Occasional (29-5%) 11 decreased testicular size 60 Very frequent [malacards.org]

[…] atresia-mandibular hypoplasia-skeletal anomalies syndrome Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-webbed neck-heart disease syndrome [se-atlas.de]

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. J. Med. Genet. 2008; 45(12):787-93. doi: 10.1136/jmg.2008.058990. PMID: 18697827 Fink, JK. Hereditary Spastic Paraplegia Overview. 2000 Aug 15. [invitae.com]

stature, microcephaly, small testes. [factpub.org]

DD Behavioral abnormalities (stereotypic, self-injuri Support Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. [autism.mindspec.org]

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypotonia-spasticity-sleep [se-atlas.de]

Here we report two novel IQSEC2 de novo truncating mutations identified through diagnostic exome sequencing in two severely affected unrelated male probands manifesting developmental delay, seizures, hypotonia, plagiocephaly, and abnormal MRI findings [springermedizin.de]

delay and autism spectrum disorder (Adegbola et al., 2008). [autism.mindspec.org]

Background Global developmental delay and intellectual disability (ID, IQ 1, 2 ]. [link.springer.com]

Disabilities Administration MRDDRC - Mental Retardation and Developmental Disabilities Research Center MRXS4 - Mental Retardation, X-Linked, Syndromic 4 MR/CM - Mental Retardation and Congenital Malformations XLMR - X-Linked Mental Retardation MHMRSA [acronymsandslang.com]

Developmental Disabilities Research Reviews 15 (4): 361–368. [research.omicsgroup.org]

Developmental Disabilities Research Reviews 15: 361–368. Stevenson RE, Schwartz CE and Rogers RC (2012) Atlas of X‐linked Intellectual Disability Syndromes. New York: Oxford University Press. Web Links www.ggc.org/research/molecular‐studies/xlid.html [els.net]

Developmental Disabilities Research Reviews. 15 (4): 361–368. doi : 10.1002/ddrr.81. PMID 20014364. "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim.org. Retrieved 2018-03-09. [howlingpixel.com]

Developmental Disabilities Research Reviews. 15 (4): 361–368. doi :10.1002/ddrr.81. PMID 20014364. "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim.org. Retrieved 2018-03-09. [maria-online.com]

[…] hygroma Popliteal pterygium syndrome, Bartsocas-Papas type PACS1-related syndrome Ichthyosis, mental retardation, dwarfism and renal impairment Radial ray agenesis Spinal atrophy ophthalmoplegia pyramidal syndrome Metaphyseal chondrodysplasia Spahr type Piebaldism [checkrare.com]

dysplasia-epilepsy-short stature syndrome Slender bone dysplasia Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia Solitary median maxillary central incisor syndrome Spastic ataxia-corneal dystrophy [se-atlas.de]

dysplasia 3 Cases 3465 Worster-Drought syndrome 3.7 P * 178475 Wound botulism 0.1 I * 2834 Wrinkly skin syndrome 30 Cases 3466 WT limb-blood syndrome 3 Families 53719 Wyburn-Mason syndrome 90 Cases 448372 X-linked acrogigantism due to Xq26 microduplication [azkurs.org]

dysplasia Sebaceous gland hyperplasia, familial presenile Pentosuria Xanthinuria type 2 Renal hypomagnesemia-6 Deafness, autosomal dominant nonsyndromic sensorineural 3 Hypertrichosis lanuginosa congenita Gestational trophoblastic tumor Multiple endocrine [checkrare.com]

[…] disease Stalker Chitayat syndrome DPM1-CDG (CDG-Ie) Retinopathy pigmentary mental retardation Hawkinsinuria Deafness onychodystrophy osteodystrophy and mental retardation syndrome Dyskeratosis congenita autosomal recessive Sneddon syndrome Pyogenic arthritis [checkrare.com]

impairment 60 Frequent (79-30%) 5 microcephaly 60 Very frequent (99-80%) 6 short stature 60 Very frequent (99-80%) 7 cleft palate 60 Occasional (29-5%) 8 protruding ear 60 Occasional (29-5%) 9 prominent nasal bridge 60 Occasional (29-5%) 10 non-midline [malacards.org]

He has no hearing impairment and has not exhibited seizures, regression or autistic behaviour. [link.springer.com]

impairment Niemann-Pick disease type A Niemann-Pick disease type C Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease [se-atlas.de]

impairment 60 Frequent (79-30%) 5 microcephaly 60 Very frequent (99-80%) 6 short stature 60 Very frequent (99-80%) 7 cleft palate 60 Occasional (29-5%) 8 protruding ear 60 Occasional (29-5%) 9 prominent nasal bridge 60 Occasional (29-5%) 10 non-midline [malacards.org]

He has no hearing impairment and has not exhibited seizures, regression or autistic behaviour. [link.springer.com]

impairment Niemann-Pick disease type A Niemann-Pick disease type C Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease [se-atlas.de]

Abbreviations or Slang with similar meaning MEHMO - Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity MI/MR - Mental Illness/Mental Retardation MHMRA - Mental Health Mental Retardation Authority MHMRSAS [acronymsandslang.com]

XLID-Nystagmus-Seizures ; XLID-Optic Atrophy ; XLID-Panhypopituitarism ; XLID-Precocious Puberty ; XLID-Psoriasis ; XLID-Retinitis Pigmentosa ; XLID-Rolandic Seizures ; XLID-Spastic Paraplegia, Type 7 ; XLID-Spastic Paraplegia-Athetosis ; XLID-Spondyloepimetaphyseal [amazon.de]

Affected individuals, however, have also been identified as presenting with additional clinical features including seizures, autistic-behavior, psychiatric problems, and delayed language skills. [springermedizin.de]

During his childhood, a global severe retardation with autistic features and central motor coordination defect, as well as epilepsy (tonic-clonic seizures, grand mal seizures and absences) became apparent. [link.springer.com]